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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:optic atrophy 7
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Accession:DOID:0111437 term browser browse the term
Definition:An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. (DO)
Synonyms:exact_synonym: OPA7;   optic atrophy 7 with or without auditory neuropathy
 primary_id: MESH:C567833
 alt_id: OMIM:612989


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optic atrophy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM126A transmembrane protein 126A ISO ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7 OMIM
ClinVar		 PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 More... NCBI chr 9:19,576,241...19,585,869
Ensembl chr 9:19,576,295...19,585,277 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6515
      eye disease 3329
        Hereditary Eye Diseases 1080
          Hereditary Optic Atrophies 82
            optic atrophy 7 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9422
          sensory system disease 6515
            eye disease 3329
              optic nerve disease 359
                optic atrophy 186
                  Hereditary Optic Atrophies 82
                    optic atrophy 7 1
paths to the root